Details for: ASPA

Gene ID: 443

Symbol: ASPA

Ensembl ID: ENSG00000108381

Description: aspartoacylase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 31.8163
    Cell Significance Index: -8.0700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 13.9900
    Cell Significance Index: -6.6100
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 3.0145
    Cell Significance Index: 18.6500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.5029
    Cell Significance Index: 48.8500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 2.2677
    Cell Significance Index: 33.9800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.0400
    Cell Significance Index: -8.0500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.5110
    Cell Significance Index: 36.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.9283
    Cell Significance Index: 26.7500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.8597
    Cell Significance Index: 43.4500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7579
    Cell Significance Index: 16.4200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7290
    Cell Significance Index: 72.1100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6843
    Cell Significance Index: 41.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.6758
    Cell Significance Index: 17.3700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.6364
    Cell Significance Index: 10.2100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.6167
    Cell Significance Index: 5.1800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6125
    Cell Significance Index: 553.0500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5414
    Cell Significance Index: 58.8900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.5003
    Cell Significance Index: 6.3000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3968
    Cell Significance Index: 64.5300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3900
    Cell Significance Index: 20.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3118
    Cell Significance Index: 56.2000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2973
    Cell Significance Index: 20.5600
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.1678
    Cell Significance Index: 1.9500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1488
    Cell Significance Index: 3.1700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1235
    Cell Significance Index: 5.6000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.1197
    Cell Significance Index: 0.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1082
    Cell Significance Index: 13.3100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1044
    Cell Significance Index: 19.8600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0697
    Cell Significance Index: 1.0500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0640
    Cell Significance Index: 2.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0392
    Cell Significance Index: 5.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0224
    Cell Significance Index: 0.5600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0167
    Cell Significance Index: 0.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0122
    Cell Significance Index: 2.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0051
    Cell Significance Index: 1.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0022
    Cell Significance Index: 4.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0014
    Cell Significance Index: -0.4900
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.0019
    Cell Significance Index: -0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0035
    Cell Significance Index: -6.4700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0044
    Cell Significance Index: -6.7600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0047
    Cell Significance Index: -6.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0079
    Cell Significance Index: -5.0300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0097
    Cell Significance Index: -7.0900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0099
    Cell Significance Index: -0.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0102
    Cell Significance Index: -7.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0110
    Cell Significance Index: -8.1600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0116
    Cell Significance Index: -1.4900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0127
    Cell Significance Index: -7.9200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0131
    Cell Significance Index: -5.7800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0134
    Cell Significance Index: -7.5800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0144
    Cell Significance Index: -6.5300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0150
    Cell Significance Index: -8.1900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0180
    Cell Significance Index: -1.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0216
    Cell Significance Index: -6.2200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0297
    Cell Significance Index: -3.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0327
    Cell Significance Index: -5.5800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0394
    Cell Significance Index: -8.3100
  • Cell Name: endothelial stalk cell (CL0002671)
    Fold Change: -0.0428
    Cell Significance Index: -0.4800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0431
    Cell Significance Index: -6.2600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0447
    Cell Significance Index: -0.9600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0491
    Cell Significance Index: -6.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0574
    Cell Significance Index: -1.8400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0577
    Cell Significance Index: -6.6100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0620
    Cell Significance Index: -0.8900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.0636
    Cell Significance Index: -0.8900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0712
    Cell Significance Index: -1.2000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0730
    Cell Significance Index: -4.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0733
    Cell Significance Index: -7.6300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0747
    Cell Significance Index: -3.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0779
    Cell Significance Index: -5.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0797
    Cell Significance Index: -6.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0898
    Cell Significance Index: -5.5200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0906
    Cell Significance Index: -5.7100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0962
    Cell Significance Index: -7.1700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1018
    Cell Significance Index: -2.7700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1099
    Cell Significance Index: -1.8400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1122
    Cell Significance Index: -1.7800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1229
    Cell Significance Index: -7.9300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1258
    Cell Significance Index: -5.4700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1299
    Cell Significance Index: -2.4000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1486
    Cell Significance Index: -2.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1495
    Cell Significance Index: -8.3900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1506
    Cell Significance Index: -6.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1507
    Cell Significance Index: -7.9100
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.1515
    Cell Significance Index: -1.4200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1622
    Cell Significance Index: -2.7800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1645
    Cell Significance Index: -7.6700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1698
    Cell Significance Index: -5.9500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1714
    Cell Significance Index: -4.7900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1726
    Cell Significance Index: -5.6500
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.1749
    Cell Significance Index: -1.1400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1862
    Cell Significance Index: -7.0500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1887
    Cell Significance Index: -2.7900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1927
    Cell Significance Index: -6.1400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2034
    Cell Significance Index: -5.4500
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.2107
    Cell Significance Index: -1.9200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2119
    Cell Significance Index: -6.2400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2160
    Cell Significance Index: -7.9300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2238
    Cell Significance Index: -5.4600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2268
    Cell Significance Index: -7.8800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic Activity:** Aspartoacylase is a hydrolase enzyme that catalyzes the hydrolysis of aspartic acid-containing compounds, such as aspartic acid, N-acetylaspartic acid, and N-acetylaspartylglutamate. 2. **Tissue Expression:** ASPA is widely expressed in various tissues, including the central nervous system, where it is involved in myelination and oligodendrocyte differentiation. Other tissues, such as the pulmonary interstitial fibroblast, cardiac neuron, and epithelial cells, also express ASPA. 3. **Regulation:** ASPA is regulated by various mechanisms, including feedback inhibition by its substrate, N-acetylaspartic acid. This feedback inhibition ensures that ASPA activity is tightly controlled to maintain proper levels of aspartic acid and its derivatives. 4. **Clinical Significance:** Dysregulation of ASPA has been implicated in several neurological disorders, including Tay-Sachs disease, a rare genetic disorder characterized by progressive neurological degeneration. **Pathways and Functions:** 1. **Aspartate Metabolism:** ASPA plays a critical role in the degradation of aspartic acid and its derivatives, regulating its levels and maintaining metabolic homeostasis. 2. **Myelination:** ASPA is involved in the myelination of neurons in the central nervous system, a process essential for proper neuronal function and transmission of electrical signals. 3. **Oligodendrocyte Differentiation:** ASPA is required for the differentiation of oligodendrocytes, the cells responsible for myelination in the central nervous system. 4. **Acetate Metabolic Process:** ASPA is involved in the acetate metabolic process, which is essential for energy production and cellular metabolism. **Clinical Significance:** 1. **Tay-Sachs Disease:** Dysregulation of ASPA has been implicated in Tay-Sachs disease, a rare genetic disorder characterized by progressive neurological degeneration. 2. **Neurological Disorders:** ASPA dysregulation has been linked to various neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). 3. **Cancer:** ASPA has been identified as a potential biomarker for cancer, particularly in glioblastoma, a type of brain cancer. 4. **Neuroprotection:** ASPA has been explored as a potential therapeutic target for neuroprotection, given its role in maintaining proper neuronal function and transmission of electrical signals. In conclusion, ASPA is a critical enzyme that plays a vital role in maintaining proper levels of aspartic acid and its derivatives, regulating its metabolism and involvement in myelination and oligodendrocyte differentiation. Dysregulation of ASPA has been implicated in various neurological disorders, highlighting the enzyme's importance in maintaining proper brain function. Further research is needed to fully understand the role of ASPA in human health and disease, but its potential as a therapeutic target for neurological disorders is an exciting area of exploration.

Genular Protein ID: 1147104961

Symbol: ACY2_HUMAN

Name: Aminoacylase-2

UniProtKB Accession Codes:

P45381

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 18 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EC 1 EMBL 2 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8252036

Title: Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

PubMed ID: 8252036

DOI: 10.1038/ng1093-118

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12706335

Title: Purification and preliminary characterization of brain aspartoacylase.

PubMed ID: 12706335

DOI: 10.1016/s0003-9861(03)00055-9

PubMed ID: 17027983

Title: Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.

PubMed ID: 17027983

DOI: 10.1016/j.febslet.2006.09.056

PubMed ID: 18293939

Title: Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue.

PubMed ID: 18293939

DOI: 10.1021/bi702400x

PubMed ID: 17194761

Title: Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.

PubMed ID: 17194761

DOI: 10.1073/pnas.0607817104

PubMed ID: 8023850

Title: Canavan disease: mutations among Jewish and non-Jewish patients.

PubMed ID: 8023850

PubMed ID: 7668285

Title: The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

PubMed ID: 7668285

PubMed ID: 7599639

Title: Novel (Cys152 > Arg) missense mutation in an Arab patient with Canavan disease.

PubMed ID: 7599639

DOI: 10.1002/humu.1380050313

PubMed ID: 8659549

Title: Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

PubMed ID: 8659549

PubMed ID: 9452117

Title: Missense mutation (I143T) in a Japanese patient with Canavan disease.

PubMed ID: 9452117

DOI: 10.1002/humu.1380110196

PubMed ID: 10564886

Title: Novel missense mutation (Y231C) in a Turkish patient with Canavan disease.

PubMed ID: 10564886

DOI: 10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co;2-o

PubMed ID: 10407784

Title: The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PubMed ID: 10407784

DOI: 10.1023/a:1005512524957

PubMed ID: 10909858

Title: Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

PubMed ID: 10909858

DOI: 10.1038/sj.ejhg.5200477

PubMed ID: 12638939

Title: Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PubMed ID: 12638939

DOI: 10.1023/a:1022091223498

PubMed ID: 12205125

Title: Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

PubMed ID: 12205125

DOI: 10.1136/jmg.39.9.e55

PubMed ID: 24036223

Title: New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

PubMed ID: 24036223

DOI: 10.1016/j.clinbiochem.2013.09.004

PubMed ID: 28101991

Title: Clinically distinct phenotypes of Canavan disease correlate with residual aspartoacylase enzyme activity.

PubMed ID: 28101991

DOI: 10.1002/humu.23181

Sequence Information:

  • Length: 313
  • Mass: 35735
  • Checksum: 33C0B9B07839E7F5
  • Sequence:
    • MTSCHIAEEH IQKVAIFGGT HGNELTGVFL VKHWLENGAE IQRTGLEVKP FITNPRAVKK 
CTRYIDCDLN RIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS 
NMGCTLILED SRNNFLIQMF HYIKTSLAPL PCYVYLIEHP SLKYATTRSI AKYPVGIEVG 
PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA 
AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK 
LTLNAKSIRC CLH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.